Sergei Yakneen

TL;DR: The flagship paper of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes Consortium describes the generation of the integrative analyses of 2,658 whole-cancer genomes and their matching normal tissues across 38 tumour types, the structures for international data sharing and standardized analyses, and the main scientific findings from across the consortium studies.

TL;DR: A suite of long-read, short- read, strand-specific sequencing technologies, optical mapping, and variant discovery algorithms are applied to comprehensively analyze three trios to define the full spectrum of human genetic variation in a haplotype-resolved manner.

TL;DR: This study highlights the major impact of rare and common germline variants on mutational landscapes in cancer and inferred over a hundred polymorphic L1/LINE elements with somatic retrotransposition activity in cancer.

TL;DR: The responsible use of federated and hybrid clouds that are set up between public and private partners as an adequate solution for genetics and genomics research in Europe, and under certain conditions between Europe and international partners is highlighted.

TL;DR: The International Cancer Genome Consortium’s Pan-Cancer Analysis of Whole Genomes (PCAWG) project aimed to categorize somatic and germline variations in both coding and non-coding regions in over 2,800 cancer patients to provide high-quality validated consensus variants for downstream analysis.